지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한이비인후과학회 Clinical and Experimental Otorhinolaryngology Clinical and Experimental Otorhinolaryngology 제2권 제2호
- 발행연도
- 2009.1
- 수록면
- 100 - 102 (3page)
이용수
초록· 키워드
오류제보하기
Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter
(Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791). H723R (2168A>G) is
the most commonly reported SLC26A4 mutations in Korean and Japanese and known as founder mutation. We recently
experienced one patient with enlarged vestibular aqueduct syndrome. The genetic study showed H723R homozygous
in the proband and H723R heterozygous mutation in his family members. The identification of a disease-causing mutation
can be used to establish a genotypic diagnosis and provide important information to both families and their physicians.
목차
등록된 정보가 없습니다.
참고문헌 (12)
참고문헌 신청
Campbell C / 2001 / Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations / Hum Mutat 17 (5) : 403 ~ 4
Choi BY / 2009 / Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coi
Gorlin RJ / 1995 / Genetic hearing loss associated with endocrine and metabolic disorders. in: Hereditary hearing loss and its syndromes / Oxford University Press : 337 ~ 339
Masmoudi S / 2000 / Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation / Am J Med Genet 90 (1) : 38 ~ 44
Morton NE / 1991 / Genetic epidemiology of hearing impairment / Ann N Y Acad Sci 630 : 16 ~ 31
Choi BY / 2009 / Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coi
Gorlin RJ / 1995 / Genetic hearing loss associated with endocrine and metabolic disorders. in: Hereditary hearing loss and its syndromes / Oxford University Press : 337 ~ 339
Masmoudi S / 2000 / Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation / Am J Med Genet 90 (1) : 38 ~ 44
Morton NE / 1991 / Genetic epidemiology of hearing impairment / Ann N Y Acad Sci 630 : 16 ~ 31
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome
Clinical and Experimental Otorhinolaryngology
2013 .01
-
Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population
Journal of genetic medicine
2014 .01
-
A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct
Clinical and Experimental Otorhinolaryngology
2017 .01
-
한국인에서의 SLC26A4 돌연변이
대한이비인후-두경부외과학회지
2014 .01
-
Auditory Outcome of Cochlear Implantation in Adolescent and Adult Patients with Enlarged Vestibular Aqueduct and Biallelic SLC26A4 Mutations
대한이비인후-두경부외과학회지
2017 .01
-
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
Annals of Laboratory Medicine
2017 .01
-
Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct
Clinical and Experimental Otorhinolaryngology
2019 .01
-
다결절 갑상선종을 동반한 선천성 감각신경성 난청 1예
대한이비인후-두경부외과학회지
2005 .01
-
mRNA Expression of SLC5A5 and SLC2A Family Genes in Papillary Thyroid Cancer: An Analysis of The Cancer Genome Atlas
Yonsei Medical Journal
2018 .01
-
SLC4A1 유전자 변이에 의한 한국인 유전구형적혈구증 2예
Laboratory Medicine Online
2018 .01
-
한국인 비증후군성 감각신경성 난청 환자에서 미토콘드리아 유전자 점 돌연변이의 빈도
대한이비인후-두경부외과학회지
2004 .01
-
Characteristics of the Germline MEN1 Mutations in Korea: A Literature Review
The Journal of Endocrine Surgery
2014 .01
-
Novel SLC5A2 Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria
Childhood Kidney Diseases
2018 .01
-
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson’s Disease
Journal of Clinical Neurology
2014 .01
-
Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency
Annals of Laboratory Medicine
2017 .01
-
Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea
Annals of Laboratory Medicine
2012 .01
-
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia
Journal of Clinical Neurology
2011 .01
-
Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
Cancer Research and Treatment
2019 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0